Fei H, Scharf S, Erlich H, Peebles C, Tan E, Fox R
Department of Human Genetics, Cetus Corporation, Emeryville, California.
Zhonghua Yi Xue Za Zhi. 1991 Oct;71(10):555-9, 38.
Primary Sjögren's syndrome is characterized by lymphocytic infiltration of the salivary and lacrimal glands and by autoantibody production. In order to identify the genetic factors that play a role in the pathogenesis and to predict the progress of the disease we used the restriction fragment length polymorphism and polymerase chain reaction method to detect the polymorphism of HLA-DRB1, DRB3, DQA and DQB genes among 75 Caucasoid primary SS patients, and compared the results with normal controls living in the same area. We found (1) significant increased frequency of HLA-DR3 (54%) and DRw8 (13%) (P less than 0.001); (2) increased frequency of the HLA-DRB3 allele DRw52a and of the HLA-DQA allele DQA 4 (P less than 005); (3) increased frequency of heterozygosity for DQA 1/DQA 4 (P less than 005); (4) autoantibody SSA and SSB associated with DR3 (P less than 002 and P less than 0001 respectively).
原发性干燥综合征的特征是唾液腺和泪腺的淋巴细胞浸润以及自身抗体产生。为了确定在发病机制中起作用的遗传因素并预测疾病进展，我们采用限制性片段长度多态性和聚合酶链反应方法检测了75例白种人原发性干燥综合征患者中HLA-DRB1、DRB3、DQA和DQB基因的多态性，并将结果与生活在同一地区的正常对照进行比较。我们发现：（1）HLA-DR3（54%）和DRw8（13%）频率显著增加（P<0.001）；（2）HLA-DRB3等位基因DRw52a和HLA-DQA等位基因DQA 4频率增加（P<0.05）；（3）DQA 1/DQA 4杂合性频率增加（P<0.05）；（4）自身抗体SSA和SSB与DR3相关（分别为P<0.02和P<0.001）。
